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Fatal familial insomnia prion12/28/2023 ![]() There are three etiologies for human prion disease: sporadic, genetic, and acquired. In the U.S., 1 in 6,239 deaths are due to prion disease and incidence is highest in older age groups ( 5). CJD has an annual incidence of 1–2 new cases per million individuals worldwide ( 4). Prion diseases also affect humans, most commonly in the form of Creutzfeldt-Jakob disease (CJD). Prion diseases affect a variety of animal species such as scrapie in sheep and goat, bovine spongiform encephalopathy in cattle, and chronic wasting disease in cervids. Similarly, PRNP knockout mice are unable to propagate the disease, demonstrating that PrP c is necessary for the clinical manifestation of disease and its transmission ( 3). ![]() Prion protein gene ( PRNP) knock-out mice are resistant to developing scrapie when they are intracerebrally inoculated ( 2). PrP c is necessary for neurotoxicity and for disease propagation ( 1). Disease causing prions (PrP D) cause neurotoxicity and employ template directed protein misfolding to convert normal cellular prion protein (PrP c) into more PrP D. Prion diseases are rapidly progressive neurodegenerative conditions that are invariably fatal. This article will review genetic aspects of human prion disease and their influence on epidemiology, clinicopathologic phenotype, diagnostics, clinical management, and potential treatment approaches. Because the prion protein is necessary for transmission and neurotoxicity, many experimental treatments targeting its production are being investigated and hold potential promise as a disease modifying treatment for all forms of prion disease, including asymptomatic mutation carriers. Genetic prion diseases will be covered in detail and information necessary for clinical care, predictive genetic testing, and genetic counseling will be reviewed. PRNP polymorphisms and pathogenic variants play a large role in the frequency, age at onset, and clinicopathologic phenotype of prion diseases. Human prion diseases have three etiologies: sporadic, genetic, and acquired. The prion protein gene ( PRNP) encodes for the cellular prion protein, which is the biological substrate for prion disease transmission and neurotoxicity. Human prion diseases are rapidly progressive and fatal neurodegenerative conditions caused by a disease-causing isoform of the native prion protein.
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